Linked Data
ClinVar Variation Id:
30136
ClinVar RCV Id:
RCV000023047
dbSNP Id:
rs387906784
ExAC:
9:34659831 C / T
gnomAD v2:
9-34659831-C-T
gnomAD v3:
9-34659834-C-T
gnomAD v4:
9-34659834-C-T
MyVariant Identifiers:
chr9:g.34659831C>T (hg19)
chr9:g.34659831_34659833delinsTGG (hg19)
chr9:g.34659834C>T (hg38)
chr9:g.34659834_34659836delinsTGG (hg38)
PubMed:
PMID:21741611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34659834C>T , CM000671.2:g.34659834C>T | GRCh38 |
| NC_000009.11:g.34659831C>T , CM000671.1:g.34659831C>T | GRCh37 |
| NC_000009.10:g.34649831C>T | NCBI36 |
| NG_028966.1:g.12650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466082.2:c.886C>T | ENSP00000432263.2:p.Arg296Trp | |
| ENST00000478308.2:n.1357C>T | ||
| ENST00000553620.6:c.655C>T | ENSP00000452207.2:p.Arg219Trp | |
| ENST00000555003.6:c.898C>T | ENSP00000450565.2:p.Arg300Trp | |
| ENST00000555981.6:c.886C>T | ENSP00000450640.2:p.Arg296Trp | |
| ENST00000556531.6:c.886C>T | ENSP00000451447.2:p.Arg296Trp | |
| ENST00000684861.1:n.1226C>T | ||
| ENST00000685278.1:n.605C>T | ||
| ENST00000685430.1:c.967C>T | ENSP00000510344.1:n.967C>T | |
| ENST00000685662.1:n.1020C>T | ||
| ENST00000685768.1:n.1524C>T | ||
| ENST00000686794.1:n.582C>T | ||
| ENST00000687192.1:n.752C>T | ||
| ENST00000687770.1:n.2080C>T | ||
| ENST00000690286.1:c.886C>T | ENSP00000509204.1:p.Arg296Trp | |
| ENST00000691183.1:c.*3271C>T | ENSP00000509954.1:n.*3271C>T | |
| ENST00000692291.1:n.934C>T | ||
| ENST00000692530.1:n.1253C>T | ||
| ENST00000692788.1:c.*660C>T | ENSP00000510222.1:n.*660C>T | |
| ENST00000441545.7:c.886C>T MANE Select | ENSP00000394391.3:p.Arg296Trp | |
| ENST00000318041.13:c.886C>T | ENSP00000326500.8:p.Arg296Trp | |
| ENST00000441545.6:c.886C>T | ENSP00000394391.2:p.Arg296Trp | |
| ENST00000555003.5:c.886C>T | ENSP00000450565.1:p.Arg296Trp | |
| ENST00000555247.5:c.*660C>T | ENSP00000450707.1:n.*660C>T | |
| ENST00000557298.5:c.*509C>T | ENSP00000451553.1:n.*509C>T | |
| ENST00000602473.5:c.886C>T | ENSP00000473647.1:p.Arg296Trp | |
| NM_001142784.2:c.886C>T | NP_001136256.1:p.Arg296Trp | |
| NR_052010.1:n.989C>T | ||
| NM_001142784.3:c.886C>T MANE Select | NP_001136256.1:p.Arg296Trp | |
| NR_052010.2:n.973C>T |